Associated Papers
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.
Zanetti A et al.
European Journal of Pediatrics, 2019
A rapid and sensitive method for measuring N-acetylglucosaminidase activity in cultured cells.
Mauri V et al.
Plos One, 2013
Unfolded protein response is not activated in the mucopolysaccharidoses but protein disulfide isomerase 5 is deregulated.
Villani GR et al.
Journal of Inherited Metabolic Disease, 2012
NAGLU mutations underlying Sanfilippo syndrome type B.
Schmidtchen A et al.
American Journal of Human Genetics, 1998
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